PMS2P4

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein complex biogenesis (GO:0070271)5.86949533
2mitochondrial respiratory chain complex assembly (GO:0033108)5.33413978
3mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.24906500
4NADH dehydrogenase complex assembly (GO:0010257)5.12960696
5mitochondrial respiratory chain complex I biogenesis (GO:0097031)5.12960696
6mitochondrial respiratory chain complex I assembly (GO:0032981)5.12960696
7mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.80297401
8protein-cofactor linkage (GO:0018065)4.60374790
9ATP synthesis coupled proton transport (GO:0015986)4.51576152
10energy coupled proton transport, down electrochemical gradient (GO:0015985)4.51576152
11respiratory electron transport chain (GO:0022904)4.22810384
12electron transport chain (GO:0022900)4.16998650
13protein polyglutamylation (GO:0018095)4.14671450
14regulation of mitochondrial translation (GO:0070129)4.05597699
15cytochrome complex assembly (GO:0017004)3.96749723
16platelet dense granule organization (GO:0060155)3.82135093
17establishment of protein localization to mitochondrial membrane (GO:0090151)3.69040877
18protein deneddylation (GO:0000338)3.67539921
19water-soluble vitamin biosynthetic process (GO:0042364)3.62320506
20proteasome assembly (GO:0043248)3.57755740
21cullin deneddylation (GO:0010388)3.56658400
22mannosylation (GO:0097502)3.55132078
23respiratory chain complex IV assembly (GO:0008535)3.49763136
24nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.42437593
25sequestering of actin monomers (GO:0042989)3.41922374
26mismatch repair (GO:0006298)3.36518220
27nonmotile primary cilium assembly (GO:0035058)3.36400667
28protein neddylation (GO:0045116)3.33350759
29termination of RNA polymerase III transcription (GO:0006386)3.31076873
30transcription elongation from RNA polymerase III promoter (GO:0006385)3.31076873
31regulation of cilium movement (GO:0003352)3.26809774
32pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.22030569
33RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.21751778
34tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.21751778
35exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.19007034
36response to pheromone (GO:0019236)3.14755469
37hydrogen ion transmembrane transport (GO:1902600)3.14278046
38regulation of glucokinase activity (GO:0033131)3.13059236
39regulation of hexokinase activity (GO:1903299)3.13059236
40base-excision repair, AP site formation (GO:0006285)3.11367483
41L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.10396716
42regulation of mitotic spindle checkpoint (GO:1903504)3.08997445
43regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.08997445
44proton transport (GO:0015992)3.01761158
45pseudouridine synthesis (GO:0001522)2.98603361
46axoneme assembly (GO:0035082)2.97544372
47metallo-sulfur cluster assembly (GO:0031163)2.97194108
48iron-sulfur cluster assembly (GO:0016226)2.97194108
49fucose catabolic process (GO:0019317)2.95867059
50L-fucose metabolic process (GO:0042354)2.95867059
51L-fucose catabolic process (GO:0042355)2.95867059
52hydrogen transport (GO:0006818)2.95394904
53retinal cone cell development (GO:0046549)2.91733039
54rRNA modification (GO:0000154)2.91559607
55chaperone-mediated protein transport (GO:0072321)2.91548699
56adenosine metabolic process (GO:0046085)2.88983543
57pyrimidine nucleotide catabolic process (GO:0006244)2.87740388
58inositol phosphate catabolic process (GO:0071545)2.84244490
59ubiquinone biosynthetic process (GO:0006744)2.82704870
60DNA integration (GO:0015074)2.82571450
61GPI anchor metabolic process (GO:0006505)2.82149766
62deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.81328560
63preassembly of GPI anchor in ER membrane (GO:0016254)2.80105755
64centriole replication (GO:0007099)2.78535041
65negative regulation of heart rate (GO:0010459)2.76904457
66C-terminal protein lipidation (GO:0006501)2.73204791
67inner mitochondrial membrane organization (GO:0007007)2.73072066
68cilium morphogenesis (GO:0060271)2.72777587
69phosphorylated carbohydrate dephosphorylation (GO:0046838)2.71331941
70inositol phosphate dephosphorylation (GO:0046855)2.71331941
71negative regulation of membrane potential (GO:0045837)2.70297583
72intracellular protein transmembrane import (GO:0044743)2.68367812
737-methylguanosine mRNA capping (GO:0006370)2.67735770
74epithelial cilium movement (GO:0003351)2.67486350
75detection of light stimulus involved in sensory perception (GO:0050962)2.67112357
76detection of light stimulus involved in visual perception (GO:0050908)2.67112357
77L-methionine salvage (GO:0071267)2.67039251
78L-methionine biosynthetic process (GO:0071265)2.67039251
79amino acid salvage (GO:0043102)2.67039251
80ATP biosynthetic process (GO:0006754)2.63787094
817-methylguanosine RNA capping (GO:0009452)2.60692508
82RNA capping (GO:0036260)2.60692508
83ubiquinone metabolic process (GO:0006743)2.58146714
84gamma-aminobutyric acid transport (GO:0015812)2.58046524
85pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.57049250
86ATP hydrolysis coupled proton transport (GO:0015991)2.55124120
87energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.55124120
88S-adenosylmethionine metabolic process (GO:0046500)2.54842461
89protein localization to cilium (GO:0061512)2.54421616
90C-terminal protein amino acid modification (GO:0018410)2.53870932
91DNA double-strand break processing (GO:0000729)2.53709771
92tRNA processing (GO:0008033)2.52109891
93purine nucleoside triphosphate biosynthetic process (GO:0009145)2.50610126
94DNA deamination (GO:0045006)2.50258929
95cellular component biogenesis (GO:0044085)2.50042650
96spliceosomal snRNP assembly (GO:0000387)2.49169709
97somatic diversification of immune receptors via somatic mutation (GO:0002566)2.49079515
98somatic hypermutation of immunoglobulin genes (GO:0016446)2.49079515
99GPI anchor biosynthetic process (GO:0006506)2.48960934
100GMP metabolic process (GO:0046037)2.48223473

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.32796190
2GABP_17652178_ChIP-ChIP_JURKAT_Human3.73552063
3EST1_17652178_ChIP-ChIP_JURKAT_Human3.56329813
4HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.36805128
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.32106890
6ZNF274_21170338_ChIP-Seq_K562_Hela3.26518561
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.60239988
8HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.58180693
9NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.57170097
10ETS1_20019798_ChIP-Seq_JURKAT_Human2.55182040
11VDR_22108803_ChIP-Seq_LS180_Human2.52898943
12VDR_23849224_ChIP-Seq_CD4+_Human2.47813772
13GBX2_23144817_ChIP-Seq_PC3_Human2.37132570
14CREB1_15753290_ChIP-ChIP_HEK293T_Human2.33654490
15ELK1_19687146_ChIP-ChIP_HELA_Human2.29029022
16IGF1R_20145208_ChIP-Seq_DFB_Human2.28266829
17GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.28041189
18MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.26249394
19ZFP57_27257070_Chip-Seq_ESCs_Mouse2.09360959
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.08233867
21SRF_21415370_ChIP-Seq_HL-1_Mouse1.96881689
22POU3F2_20337985_ChIP-ChIP_501MEL_Human1.94920802
23FUS_26573619_Chip-Seq_HEK293_Human1.92651157
24FOXP3_21729870_ChIP-Seq_TREG_Human1.92332709
25PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.90847520
26MYC_18940864_ChIP-ChIP_HL60_Human1.86893359
27EWS_26573619_Chip-Seq_HEK293_Human1.85858032
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.83563331
29FLI1_27457419_Chip-Seq_LIVER_Mouse1.78844056
30TAF15_26573619_Chip-Seq_HEK293_Human1.71787498
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.69601151
32GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.69250641
33PADI4_21655091_ChIP-ChIP_MCF-7_Human1.61525610
34ELF1_17652178_ChIP-ChIP_JURKAT_Human1.60466539
35PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.60062784
36EZH2_22144423_ChIP-Seq_EOC_Human1.56934947
37TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55643756
38NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.51664621
39P300_19829295_ChIP-Seq_ESCs_Human1.50732434
40ER_23166858_ChIP-Seq_MCF-7_Human1.46540565
41EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.45959834
42PCGF2_27294783_Chip-Seq_ESCs_Mouse1.45300364
43TP53_22573176_ChIP-Seq_HFKS_Human1.44987305
44MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.44233482
45E2F4_17652178_ChIP-ChIP_JURKAT_Human1.43687949
46DCP1A_22483619_ChIP-Seq_HELA_Human1.35474132
47TTF2_22483619_ChIP-Seq_HELA_Human1.33903424
48FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.32409992
49YY1_21170310_ChIP-Seq_MESCs_Mouse1.30684444
50THAP11_20581084_ChIP-Seq_MESCs_Mouse1.30039402
51GABP_19822575_ChIP-Seq_HepG2_Human1.26714925
52SALL1_21062744_ChIP-ChIP_HESCs_Human1.26345128
53RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.24022160
54IRF1_19129219_ChIP-ChIP_H3396_Human1.23205051
55MYC_18555785_ChIP-Seq_MESCs_Mouse1.22028628
56CBP_20019798_ChIP-Seq_JUKART_Human1.21250774
57IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.21250774
58FOXA1_27270436_Chip-Seq_PROSTATE_Human1.20372928
59FOXA1_25329375_ChIP-Seq_VCAP_Human1.20372928
60CBX2_27304074_Chip-Seq_ESCs_Mouse1.19300890
61ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.17144666
62BMI1_23680149_ChIP-Seq_NPCS_Mouse1.12185964
63ELK1_22589737_ChIP-Seq_MCF10A_Human1.08723785
64POU5F1_16153702_ChIP-ChIP_HESCs_Human1.08602866
65UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.07941874
66HOXB4_20404135_ChIP-ChIP_EML_Mouse1.07426787
67MYC_18358816_ChIP-ChIP_MESCs_Mouse1.05985979
68CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.05226950
69HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.03913042
70BCAT_22108803_ChIP-Seq_LS180_Human1.03478383
71SUZ12_27294783_Chip-Seq_NPCs_Mouse1.02759976
72YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.01192109
73NCOR_22424771_ChIP-Seq_293T_Human0.99740174
74SOX2_19829295_ChIP-Seq_ESCs_Human0.99722101
75NANOG_19829295_ChIP-Seq_ESCs_Human0.99722101
76RBPJ_22232070_ChIP-Seq_NCS_Mouse0.98659797
77AR_20517297_ChIP-Seq_VCAP_Human0.98441053
78E2F1_18555785_ChIP-Seq_MESCs_Mouse0.97970765
79PIAS1_25552417_ChIP-Seq_VCAP_Human0.97886515
80NFE2_27457419_Chip-Seq_LIVER_Mouse0.96734238
81GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.95737339
82NOTCH1_21737748_ChIP-Seq_TLL_Human0.95547568
83EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.93537005
84EZH2_27294783_Chip-Seq_NPCs_Mouse0.93524418
85AR_25329375_ChIP-Seq_VCAP_Human0.91037386
86RNF2_27304074_Chip-Seq_NSC_Mouse0.90965964
87SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.90698609
88PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.89102666
89RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.88925998
90FOXA1_21572438_ChIP-Seq_LNCaP_Human0.88221368
91AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.87759883
92KLF5_20875108_ChIP-Seq_MESCs_Mouse0.87422141
93SMAD4_21799915_ChIP-Seq_A2780_Human0.86785446
94ETV2_25802403_ChIP-Seq_MESCs_Mouse0.86115193
95SOX2_16153702_ChIP-ChIP_HESCs_Human0.86069011
96FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.85657057
97FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.85301790
98SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.85091715
99POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.84631024
100AUTS2_25519132_ChIP-Seq_293T-REX_Human0.82645297

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern3.03823291
2MP0008877_abnormal_DNA_methylation2.94962719
3MP0006072_abnormal_retinal_apoptosis2.62116350
4MP0002102_abnormal_ear_morphology2.46907112
5MP0002736_abnormal_nociception_after2.44996495
6MP0001529_abnormal_vocalization2.41858116
7MP0001984_abnormal_olfaction2.40767081
8MP0002837_dystrophic_cardiac_calcinosis2.35916280
9MP0001968_abnormal_touch/_nociception2.31578459
10MP0002938_white_spotting2.30670107
11MP0005551_abnormal_eye_electrophysiolog2.26405133
12MP0003122_maternal_imprinting2.25396244
13MP0008058_abnormal_DNA_repair2.23779788
14MP0004142_abnormal_muscle_tone2.18789351
15MP0005075_abnormal_melanosome_morpholog2.06453324
16MP0009046_muscle_twitch2.06428851
17MP0002234_abnormal_pharynx_morphology2.04785920
18MP0000569_abnormal_digit_pigmentation2.02050651
19MP0005084_abnormal_gallbladder_morpholo1.96747792
20MP0004147_increased_porphyrin_level1.94793997
21MP0003195_calcinosis1.94742780
22MP0003011_delayed_dark_adaptation1.89175333
23MP0005253_abnormal_eye_physiology1.85940322
24MP0003787_abnormal_imprinting1.79296750
25MP0001905_abnormal_dopamine_level1.71917246
26MP0003136_yellow_coat_color1.69303795
27MP0002653_abnormal_ependyma_morphology1.67506214
28MP0003121_genomic_imprinting1.66147928
29MP0002272_abnormal_nervous_system1.65860499
30MP0003718_maternal_effect1.64624545
31MP0003646_muscle_fatigue1.62395790
32MP0001486_abnormal_startle_reflex1.61100209
33MP0005645_abnormal_hypothalamus_physiol1.59598463
34MP0008872_abnormal_physiological_respon1.55942820
35MP0008995_early_reproductive_senescence1.54129482
36MP0009745_abnormal_behavioral_response1.51210833
37MP0008875_abnormal_xenobiotic_pharmacok1.50978533
38MP0006276_abnormal_autonomic_nervous1.48662953
39MP0008789_abnormal_olfactory_epithelium1.44384287
40MP0005646_abnormal_pituitary_gland1.44120068
41MP0001764_abnormal_homeostasis1.43395891
42MP0001986_abnormal_taste_sensitivity1.40867363
43MP0010386_abnormal_urinary_bladder1.36845598
44MP0002735_abnormal_chemical_nociception1.34840597
45MP0004133_heterotaxia1.34732399
46MP0003786_premature_aging1.34200102
47MP0004885_abnormal_endolymph1.31708324
48MP0002638_abnormal_pupillary_reflex1.31082219
49MP0004742_abnormal_vestibular_system1.28627230
50MP0006035_abnormal_mitochondrial_morpho1.28269839
51MP0006292_abnormal_olfactory_placode1.27263473
52MP0002064_seizures1.23453453
53MP0000372_irregular_coat_pigmentation1.20286045
54MP0005410_abnormal_fertilization1.19218707
55MP0009379_abnormal_foot_pigmentation1.19116619
56MP0002557_abnormal_social/conspecific_i1.17593742
57MP0002751_abnormal_autonomic_nervous1.15740772
58MP0005499_abnormal_olfactory_system1.14751810
59MP0005394_taste/olfaction_phenotype1.14751810
60MP0002822_catalepsy1.13687984
61MP0006036_abnormal_mitochondrial_physio1.13279335
62MP0005174_abnormal_tail_pigmentation1.12878760
63MP0002572_abnormal_emotion/affect_behav1.09721481
64MP0002095_abnormal_skin_pigmentation1.09156335
65MP0002928_abnormal_bile_duct1.08960519
66MP0002067_abnormal_sensory_capabilities1.06283199
67MP0003186_abnormal_redox_activity1.01570860
68MP0002733_abnormal_thermal_nociception1.01090413
69MP0001970_abnormal_pain_threshold1.01060554
70MP0000026_abnormal_inner_ear1.00129152
71MP0004043_abnormal_pH_regulation0.99205521
72MP0001929_abnormal_gametogenesis0.97371816
73MP0000631_abnormal_neuroendocrine_gland0.97091568
74MP0001501_abnormal_sleep_pattern0.92565595
75MP0002210_abnormal_sex_determination0.91609634
76MP0005332_abnormal_amino_acid0.89742163
77MP0002160_abnormal_reproductive_system0.89115788
78MP0005389_reproductive_system_phenotype0.88767382
79MP0003698_abnormal_male_reproductive0.87494719
80MP0002876_abnormal_thyroid_physiology0.87454513
81MP0001963_abnormal_hearing_physiology0.86667418
82MP0003635_abnormal_synaptic_transmissio0.86139536
83MP0002752_abnormal_somatic_nervous0.85981979
84MP0001485_abnormal_pinna_reflex0.84944248
85MP0002734_abnormal_mechanical_nocicepti0.82564801
86MP0009697_abnormal_copulation0.81887319
87MP0005423_abnormal_somatic_nervous0.81732140
88MP0000653_abnormal_sex_gland0.80485445
89MP0010094_abnormal_chromosome_stability0.79770583
90MP0005171_absent_coat_pigmentation0.79267711
91MP0005195_abnormal_posterior_eye0.78267123
92MP0000778_abnormal_nervous_system0.78234051
93MP0002184_abnormal_innervation0.78109714
94MP0004924_abnormal_behavior0.77784883
95MP0005386_behavior/neurological_phenoty0.77784883
96MP0002163_abnormal_gland_morphology0.75940090
97MP0003693_abnormal_embryo_hatching0.75889513
98MP0001145_abnormal_male_reproductive0.75789662
99MP0000358_abnormal_cell_content/0.75534459
100MP0002277_abnormal_respiratory_mucosa0.75291396

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.10344889
2Abnormal mitochondria in muscle tissue (HP:0008316)4.83166300
3Mitochondrial inheritance (HP:0001427)4.60000402
4Progressive macrocephaly (HP:0004481)4.48286503
5Acute encephalopathy (HP:0006846)4.32265415
6Hepatocellular necrosis (HP:0001404)4.20426165
7Increased CSF lactate (HP:0002490)4.04998318
8Hepatic necrosis (HP:0002605)4.01011770
93-Methylglutaconic aciduria (HP:0003535)3.66424954
10Increased hepatocellular lipid droplets (HP:0006565)3.59551158
11Medial flaring of the eyebrow (HP:0010747)3.37638066
12Abnormality of midbrain morphology (HP:0002418)3.36885173
13Molar tooth sign on MRI (HP:0002419)3.36885173
14Cerebral edema (HP:0002181)3.32519355
15Pancreatic cysts (HP:0001737)3.30856322
16Lipid accumulation in hepatocytes (HP:0006561)3.28891713
17True hermaphroditism (HP:0010459)3.05778436
18Pancreatic fibrosis (HP:0100732)3.00045906
19Renal Fanconi syndrome (HP:0001994)2.98876399
20Decreased activity of mitochondrial respiratory chain (HP:0008972)2.98867765
21Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.98867765
22Nephronophthisis (HP:0000090)2.98391206
23Methylmalonic acidemia (HP:0002912)2.97443015
24Optic disc pallor (HP:0000543)2.97104452
25Gait imbalance (HP:0002141)2.94448215
26Congenital primary aphakia (HP:0007707)2.91171019
27Methylmalonic aciduria (HP:0012120)2.75208639
28Congenital, generalized hypertrichosis (HP:0004540)2.72152753
29Increased intramyocellular lipid droplets (HP:0012240)2.70560610
30Lactic acidosis (HP:0003128)2.70214109
31Abnormal number of erythroid precursors (HP:0012131)2.69068598
32Nephrogenic diabetes insipidus (HP:0009806)2.64458974
33Congenital stationary night blindness (HP:0007642)2.60446258
34Increased serum lactate (HP:0002151)2.58568775
35Abnormality of the labia minora (HP:0012880)2.53096315
36Colon cancer (HP:0003003)2.49452753
37Respiratory failure (HP:0002878)2.47830770
38Hypothermia (HP:0002045)2.47617895
39Cutaneous melanoma (HP:0012056)2.41751081
40Abnormality of the renal medulla (HP:0100957)2.38379189
41Hyperglycinemia (HP:0002154)2.35977040
42Type I transferrin isoform profile (HP:0003642)2.31443500
43Exertional dyspnea (HP:0002875)2.28889205
44Exercise intolerance (HP:0003546)2.28423113
45Generalized aminoaciduria (HP:0002909)2.25792135
46Abnormality of the renal cortex (HP:0011035)2.25109689
47Type II lissencephaly (HP:0007260)2.22646842
48Retinal dysplasia (HP:0007973)2.21859555
49Genital tract atresia (HP:0001827)2.20952127
50Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.19165560
51Vaginal atresia (HP:0000148)2.18587937
52Glycosuria (HP:0003076)2.16539093
53Abnormality of urine glucose concentration (HP:0011016)2.16539093
54Increased muscle lipid content (HP:0009058)2.15819451
55Sclerocornea (HP:0000647)2.15735333
56Abnormality of cells of the erythroid lineage (HP:0012130)2.15191200
57Renal cortical cysts (HP:0000803)2.11114804
58Abnormal protein glycosylation (HP:0012346)2.11048557
59Abnormal glycosylation (HP:0012345)2.11048557
60Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.11048557
61Abnormal protein N-linked glycosylation (HP:0012347)2.11048557
62Abnormality of dicarboxylic acid metabolism (HP:0010995)2.08331926
63Dicarboxylic aciduria (HP:0003215)2.08331926
64Polyphagia (HP:0002591)2.08299009
65Lethargy (HP:0001254)2.07949967
66Aplasia/hypoplasia of the uterus (HP:0008684)2.07121294
67Attenuation of retinal blood vessels (HP:0007843)2.05046603
68Leukodystrophy (HP:0002415)2.03604092
69Focal motor seizures (HP:0011153)1.98034329
70Dialeptic seizures (HP:0011146)1.96411168
71Abolished electroretinogram (ERG) (HP:0000550)1.95522584
72Hypoplasia of the fovea (HP:0007750)1.94415714
73Aplasia/Hypoplasia of the fovea (HP:0008060)1.94415714
74Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.92274932
75Emotional lability (HP:0000712)1.91414157
76Specific learning disability (HP:0001328)1.91127284
77Abnormality of the fovea (HP:0000493)1.89999813
78Aplastic anemia (HP:0001915)1.87301336
79Chronic hepatic failure (HP:0100626)1.86485943
80Hemiparesis (HP:0001269)1.86436769
81Inability to walk (HP:0002540)1.84617719
82Progressive inability to walk (HP:0002505)1.82911081
83Ketosis (HP:0001946)1.81497227
84Abnormal biliary tract physiology (HP:0012439)1.78002793
85Bile duct proliferation (HP:0001408)1.78002793
86Progressive microcephaly (HP:0000253)1.77834258
87CNS demyelination (HP:0007305)1.76617662
88Cystic liver disease (HP:0006706)1.76169149
89Occipital encephalocele (HP:0002085)1.75388699
90Poor coordination (HP:0002370)1.75075516
91Abnormality of vitamin B metabolism (HP:0004340)1.74002470
92Absent thumb (HP:0009777)1.71628732
93Abnormal rod and cone electroretinograms (HP:0008323)1.71602377
94Limb dystonia (HP:0002451)1.70094220
95Pancytopenia (HP:0001876)1.70090911
96Ependymoma (HP:0002888)1.68915662
97Postaxial hand polydactyly (HP:0001162)1.68619642
98Abnormality of the vitamin B12 metabolism (HP:0004341)1.68248023
99Pendular nystagmus (HP:0012043)1.67543933
100Abnormality of macular pigmentation (HP:0008002)1.67456186

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K24.85113158
2VRK24.07137487
3FRK3.16134181
4TAOK32.69869856
5NUAK12.67824085
6BCKDK2.56938507
7ZAK2.41997741
8VRK12.36839141
9WNK32.35377165
10MAP3K42.11214578
11STK162.00572925
12ADRBK21.88772420
13GRK11.79472591
14DYRK21.65586833
15TLK11.64186701
16BUB11.59855087
17TNIK1.56739182
18TRIM281.53738976
19MAPK131.48852220
20MAP2K71.46048732
21MST41.45505351
22CSNK1G31.42118009
23PINK11.39784546
24CSNK1G21.37711529
25BMPR1B1.33155280
26MARK11.33037240
27PLK41.32681047
28TXK1.32622488
29INSRR1.31726724
30CDC71.24991223
31PAK31.24378326
32NME11.22002533
33PLK31.20684386
34CASK1.18075370
35CSNK1G11.11820043
36FLT31.05982857
37CSNK1A1L1.04784530
38CCNB11.04258172
39NEK11.03195185
40ACVR1B0.98488569
41BRSK20.93993681
42MAPKAPK50.89925611
43MUSK0.88837431
44MAP3K120.88811284
45RPS6KA50.88595771
46BCR0.86816551
47PLK20.86290761
48SRPK10.85010639
49CAMKK20.83606140
50ADRBK10.76574072
51TIE10.76498802
52GRK70.76370280
53PRKCG0.76352430
54PRKCE0.74489323
55CDK80.74424986
56TESK20.73866541
57EIF2AK30.70000452
58IKBKB0.68445532
59PLK10.68393932
60EPHA30.67076191
61MAP2K20.65878504
62GRK50.65414321
63EIF2AK10.63801055
64ERBB30.63701703
65PHKG20.62254825
66PHKG10.62254825
67RPS6KA40.61785683
68DYRK30.61022457
69PASK0.60859768
70CDK30.55590949
71PKN10.53573028
72FGFR20.51031346
73WEE10.51006305
74TSSK60.50734616
75WNK40.50655732
76TAF10.50280119
77ATR0.48501931
78CSNK1A10.47545614
79MKNK10.46353789
80PDK20.45075434
81MINK10.45028375
82PRKCI0.43528670
83GRK60.43311153
84CSNK2A10.42825163
85TEC0.42463689
86CSNK2A20.41791256
87OXSR10.41773136
88STK38L0.41337268
89MAPK150.40404276
90PTK2B0.39542205
91NLK0.39442446
92CHEK20.39234432
93AURKB0.38911996
94TGFBR10.37803555
95EPHA40.37269567
96LIMK10.36930021
97DAPK10.36469587
98PNCK0.35899543
99PRKACA0.35276978
100PRKACB0.34739109

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.35830519
2Protein export_Homo sapiens_hsa030603.59971576
3Parkinsons disease_Homo sapiens_hsa050123.48450125
4RNA polymerase_Homo sapiens_hsa030203.09883377
5Proteasome_Homo sapiens_hsa030502.88350448
6Huntingtons disease_Homo sapiens_hsa050162.49538187
7Ribosome_Homo sapiens_hsa030102.47042230
8Alzheimers disease_Homo sapiens_hsa050102.33629164
9Mismatch repair_Homo sapiens_hsa034302.21587491
10Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.19913012
11Homologous recombination_Homo sapiens_hsa034402.12494790
12Fanconi anemia pathway_Homo sapiens_hsa034602.05234075
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.98958641
14Phototransduction_Homo sapiens_hsa047441.94884742
15Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.92478027
16Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.85040768
17Maturity onset diabetes of the young_Homo sapiens_hsa049501.78197126
18Fatty acid elongation_Homo sapiens_hsa000621.77307641
19Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.76257581
20Butanoate metabolism_Homo sapiens_hsa006501.66520484
21Cardiac muscle contraction_Homo sapiens_hsa042601.62088961
22Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.57453064
23Base excision repair_Homo sapiens_hsa034101.52428689
24Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.45281940
25Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.43512912
26Nucleotide excision repair_Homo sapiens_hsa034201.42838643
27Collecting duct acid secretion_Homo sapiens_hsa049661.39315877
28Nicotine addiction_Homo sapiens_hsa050331.38878945
29Pyrimidine metabolism_Homo sapiens_hsa002401.35880668
30RNA degradation_Homo sapiens_hsa030181.33774636
31Basal transcription factors_Homo sapiens_hsa030221.32315695
32DNA replication_Homo sapiens_hsa030301.31712333
33Propanoate metabolism_Homo sapiens_hsa006401.26381961
34Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.24228952
35Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.22975126
36Tryptophan metabolism_Homo sapiens_hsa003801.19716991
37Purine metabolism_Homo sapiens_hsa002301.19325075
38Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.18256413
39Spliceosome_Homo sapiens_hsa030401.11572795
40Peroxisome_Homo sapiens_hsa041461.10366098
41Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.02287018
42Regulation of autophagy_Homo sapiens_hsa041401.01611425
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.00273827
44Nitrogen metabolism_Homo sapiens_hsa009100.96921185
45Sulfur metabolism_Homo sapiens_hsa009200.95819700
46Linoleic acid metabolism_Homo sapiens_hsa005910.94201283
47Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.92579511
48Non-homologous end-joining_Homo sapiens_hsa034500.91164672
49Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.88125793
50Metabolic pathways_Homo sapiens_hsa011000.87512576
51One carbon pool by folate_Homo sapiens_hsa006700.86355240
52Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.86286353
53Glutathione metabolism_Homo sapiens_hsa004800.85243849
54RNA transport_Homo sapiens_hsa030130.82142444
55Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.77041814
56GABAergic synapse_Homo sapiens_hsa047270.76928980
57Caffeine metabolism_Homo sapiens_hsa002320.76234195
58Selenocompound metabolism_Homo sapiens_hsa004500.75498910
59Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.73177695
60Taste transduction_Homo sapiens_hsa047420.71200678
61N-Glycan biosynthesis_Homo sapiens_hsa005100.68605829
62Folate biosynthesis_Homo sapiens_hsa007900.68587821
63Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.68125550
64alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.67935820
65Ether lipid metabolism_Homo sapiens_hsa005650.67315351
66Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.63164824
67Chemical carcinogenesis_Homo sapiens_hsa052040.63106876
68Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.61339264
69Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.61296325
70Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.59716659
71Morphine addiction_Homo sapiens_hsa050320.56938203
72Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.55661792
73Fatty acid metabolism_Homo sapiens_hsa012120.52656819
74SNARE interactions in vesicular transport_Homo sapiens_hsa041300.51929256
75Steroid biosynthesis_Homo sapiens_hsa001000.50331974
76Olfactory transduction_Homo sapiens_hsa047400.47774001
77Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.47553025
78Synaptic vesicle cycle_Homo sapiens_hsa047210.46399987
79Steroid hormone biosynthesis_Homo sapiens_hsa001400.44552475
80Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.42011888
81Vibrio cholerae infection_Homo sapiens_hsa051100.40351652
82Retinol metabolism_Homo sapiens_hsa008300.40315849
83Arachidonic acid metabolism_Homo sapiens_hsa005900.39063240
84Oocyte meiosis_Homo sapiens_hsa041140.36827919
85Primary bile acid biosynthesis_Homo sapiens_hsa001200.36743278
86Circadian entrainment_Homo sapiens_hsa047130.36270097
87Pyruvate metabolism_Homo sapiens_hsa006200.34826304
88Serotonergic synapse_Homo sapiens_hsa047260.34475872
89Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.34463271
90Glutamatergic synapse_Homo sapiens_hsa047240.34436438
91Sulfur relay system_Homo sapiens_hsa041220.32848609
92Tyrosine metabolism_Homo sapiens_hsa003500.32442733
93Fatty acid degradation_Homo sapiens_hsa000710.31359017
94Pentose and glucuronate interconversions_Homo sapiens_hsa000400.30770012
95beta-Alanine metabolism_Homo sapiens_hsa004100.30175878
96Intestinal immune network for IgA production_Homo sapiens_hsa046720.30038692
97Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.28716965
98Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.27345164
99Rheumatoid arthritis_Homo sapiens_hsa053230.26785585
100ABC transporters_Homo sapiens_hsa020100.26717493

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